Incidental Mutation 'R0613:Igsf9b'
| ID |
54890 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Igsf9b
|
| Ensembl Gene |
ENSMUSG00000034275 |
| Gene Name |
immunoglobulin superfamily, member 9B |
| Synonyms |
LOC235086 |
| MMRRC Submission |
038802-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.557)
|
| Stock # |
R0613 (G1)
|
| Quality Score |
93 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
27299204-27357546 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 27326920 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 569
(V569A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110902
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115247]
[ENSMUST00000133213]
[ENSMUST00000214357]
|
| AlphaFold |
E9PZ19 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115247
AA Change: V569A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000110902
Gene: ENSMUSG00000034275
AA Change: V569A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
IG
|
30 |
134 |
9.41e-9 |
SMART |
|
IGc2
|
152 |
215 |
1.82e-15 |
SMART |
|
FN3
|
232 |
302 |
7.02e1 |
SMART |
|
IGc2
|
241 |
310 |
3.01e-7 |
SMART |
|
IG
|
331 |
417 |
2.79e-2 |
SMART |
|
IGc2
|
433 |
495 |
5.48e-10 |
SMART |
|
FN3
|
510 |
591 |
1.35e-7 |
SMART |
|
FN3
|
615 |
695 |
3.08e-2 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000133213
AA Change: V569A
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000117017
Gene: ENSMUSG00000034275
AA Change: V569A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
IG
|
30 |
134 |
9.41e-9 |
SMART |
|
IGc2
|
152 |
215 |
1.82e-15 |
SMART |
|
FN3
|
232 |
302 |
7.02e1 |
SMART |
|
IGc2
|
241 |
310 |
3.01e-7 |
SMART |
|
IG
|
331 |
417 |
2.79e-2 |
SMART |
|
IGc2
|
433 |
495 |
5.48e-10 |
SMART |
|
FN3
|
510 |
591 |
1.35e-7 |
SMART |
|
FN3
|
615 |
695 |
3.08e-2 |
SMART |
|
transmembrane domain
|
727 |
749 |
N/A |
INTRINSIC |
|
low complexity region
|
750 |
760 |
N/A |
INTRINSIC |
|
low complexity region
|
835 |
843 |
N/A |
INTRINSIC |
|
low complexity region
|
971 |
982 |
N/A |
INTRINSIC |
|
low complexity region
|
990 |
1001 |
N/A |
INTRINSIC |
|
low complexity region
|
1148 |
1161 |
N/A |
INTRINSIC |
|
low complexity region
|
1172 |
1190 |
N/A |
INTRINSIC |
|
low complexity region
|
1246 |
1273 |
N/A |
INTRINSIC |
|
low complexity region
|
1284 |
1296 |
N/A |
INTRINSIC |
|
low complexity region
|
1313 |
1326 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214187
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214357
AA Change: V573A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.1523 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.3%
|
| Validation Efficiency |
100% (72/72) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acd |
A |
T |
8: 105,700,568 (GRCm38) |
|
probably null |
Het |
| Adcy9 |
A |
G |
16: 4,419,539 (GRCm38) |
S3P |
probably damaging |
Het |
| Adgrl4 |
T |
C |
3: 151,543,222 (GRCm38) |
|
probably benign |
Het |
| Aff3 |
T |
C |
1: 38,209,923 (GRCm38) |
E700G |
probably benign |
Het |
| Ahctf1 |
A |
G |
1: 179,769,414 (GRCm38) |
S56P |
probably damaging |
Het |
| Atp12a |
T |
A |
14: 56,374,521 (GRCm38) |
I384N |
probably damaging |
Het |
| Brca1 |
A |
T |
11: 101,508,210 (GRCm38) |
S1519T |
probably benign |
Het |
| Ccl25 |
T |
C |
8: 4,349,850 (GRCm38) |
V94A |
probably benign |
Het |
| Cep170 |
T |
C |
1: 176,774,680 (GRCm38) |
T287A |
probably benign |
Het |
| Ces1a |
A |
G |
8: 93,025,581 (GRCm38) |
S383P |
probably benign |
Het |
| Cntnap3 |
A |
T |
13: 64,758,414 (GRCm38) |
F793I |
probably damaging |
Het |
| Ctsm |
T |
C |
13: 61,539,682 (GRCm38) |
R89G |
probably damaging |
Het |
| Cyp2j12 |
T |
G |
4: 96,102,079 (GRCm38) |
T417P |
probably damaging |
Het |
| D430041D05Rik |
G |
C |
2: 104,167,950 (GRCm38) |
P1836R |
probably damaging |
Het |
| Edn2 |
T |
A |
4: 120,161,864 (GRCm38) |
|
probably null |
Het |
| Emc1 |
T |
A |
4: 139,375,072 (GRCm38) |
|
probably benign |
Het |
| Fam189a2 |
T |
A |
19: 23,986,489 (GRCm38) |
N239Y |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,700,488 (GRCm38) |
|
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,993,795 (GRCm38) |
D6624V |
probably damaging |
Het |
| Gpr107 |
A |
G |
2: 31,178,285 (GRCm38) |
Y253C |
probably damaging |
Het |
| Gpr108 |
A |
G |
17: 57,238,174 (GRCm38) |
|
probably benign |
Het |
| Grik1 |
A |
G |
16: 88,051,333 (GRCm38) |
|
probably null |
Het |
| Gtf3c1 |
G |
A |
7: 125,644,134 (GRCm38) |
P1766L |
possibly damaging |
Het |
| Gucy2c |
A |
T |
6: 136,760,723 (GRCm38) |
N293K |
probably damaging |
Het |
| Hps6 |
C |
A |
19: 46,003,821 (GRCm38) |
P66T |
probably benign |
Het |
| Hspa9 |
A |
T |
18: 34,947,980 (GRCm38) |
V216E |
probably damaging |
Het |
| Igsf8 |
T |
A |
1: 172,317,589 (GRCm38) |
M224K |
probably benign |
Het |
| Itgb4 |
A |
T |
11: 115,993,342 (GRCm38) |
I952F |
probably damaging |
Het |
| Kcnh4 |
C |
T |
11: 100,746,932 (GRCm38) |
G633E |
probably benign |
Het |
| Khdrbs2 |
A |
G |
1: 32,657,522 (GRCm38) |
H344R |
possibly damaging |
Het |
| Kmo |
C |
A |
1: 175,637,892 (GRCm38) |
R71S |
probably damaging |
Het |
| Lrrc31 |
A |
G |
3: 30,685,035 (GRCm38) |
|
probably benign |
Het |
| Map1b |
T |
A |
13: 99,441,641 (GRCm38) |
D168V |
probably damaging |
Het |
| Mfsd6 |
T |
C |
1: 52,658,696 (GRCm38) |
|
probably benign |
Het |
| Mgst1 |
G |
A |
6: 138,156,245 (GRCm38) |
G186D |
probably damaging |
Het |
| Mrc1 |
C |
T |
2: 14,294,819 (GRCm38) |
A740V |
probably damaging |
Het |
| Mroh2a |
G |
A |
1: 88,243,950 (GRCm38) |
R770Q |
probably damaging |
Het |
| Mtor |
T |
C |
4: 148,526,046 (GRCm38) |
Y1605H |
possibly damaging |
Het |
| Ncoa4 |
T |
A |
14: 32,176,552 (GRCm38) |
L443Q |
probably damaging |
Het |
| Nelfa |
G |
A |
5: 33,903,463 (GRCm38) |
|
probably benign |
Het |
| Nepn |
T |
A |
10: 52,401,257 (GRCm38) |
L363Q |
probably damaging |
Het |
| Nfat5 |
A |
G |
8: 107,366,295 (GRCm38) |
T630A |
possibly damaging |
Het |
| Nipal4 |
A |
T |
11: 46,150,384 (GRCm38) |
V328E |
probably benign |
Het |
| Olfr1228 |
A |
T |
2: 89,249,125 (GRCm38) |
C178S |
probably damaging |
Het |
| Olfr1391 |
T |
A |
11: 49,327,748 (GRCm38) |
S112R |
possibly damaging |
Het |
| Olfr462 |
A |
T |
11: 87,889,227 (GRCm38) |
V223E |
possibly damaging |
Het |
| Olfr747 |
T |
A |
14: 50,681,404 (GRCm38) |
I77F |
probably benign |
Het |
| Olfr809 |
T |
A |
10: 129,776,262 (GRCm38) |
M116K |
probably damaging |
Het |
| Olfr924 |
T |
A |
9: 38,848,613 (GRCm38) |
C166* |
probably null |
Het |
| Otogl |
A |
T |
10: 107,817,070 (GRCm38) |
N1140K |
probably damaging |
Het |
| Ppip5k2 |
A |
C |
1: 97,752,740 (GRCm38) |
Y236* |
probably null |
Het |
| Prelid1 |
C |
T |
13: 55,324,343 (GRCm38) |
R111* |
probably null |
Het |
| Prpf8 |
T |
C |
11: 75,503,444 (GRCm38) |
L1771P |
probably damaging |
Het |
| Ptprb |
A |
T |
10: 116,302,325 (GRCm38) |
Y378F |
possibly damaging |
Het |
| Ptprb |
A |
G |
10: 116,302,378 (GRCm38) |
T396A |
possibly damaging |
Het |
| Rab3il1 |
T |
C |
19: 10,028,364 (GRCm38) |
L174P |
probably damaging |
Het |
| Rab4a |
T |
C |
8: 123,823,835 (GRCm38) |
V18A |
possibly damaging |
Het |
| Scn3a |
T |
A |
2: 65,472,284 (GRCm38) |
M1273L |
possibly damaging |
Het |
| Sdhc |
A |
T |
1: 171,129,844 (GRCm38) |
V156E |
probably benign |
Het |
| Slco3a1 |
T |
C |
7: 74,346,634 (GRCm38) |
|
probably benign |
Het |
| Syne3 |
T |
C |
12: 104,958,112 (GRCm38) |
T343A |
probably benign |
Het |
| Syt11 |
A |
G |
3: 88,762,469 (GRCm38) |
C39R |
probably damaging |
Het |
| Tll2 |
G |
T |
19: 41,104,990 (GRCm38) |
D462E |
probably damaging |
Het |
| Tmem132e |
T |
A |
11: 82,438,338 (GRCm38) |
V481D |
probably damaging |
Het |
| Tmem161b |
C |
T |
13: 84,251,320 (GRCm38) |
L17F |
probably damaging |
Het |
| Vmn2r105 |
T |
A |
17: 20,208,316 (GRCm38) |
I833F |
probably damaging |
Het |
| Vstm2a |
A |
T |
11: 16,263,140 (GRCm38) |
N175I |
probably damaging |
Het |
| Xpnpep1 |
G |
T |
19: 53,006,353 (GRCm38) |
D238E |
probably damaging |
Het |
| Zfp112 |
G |
A |
7: 24,127,028 (GRCm38) |
G807D |
probably benign |
Het |
| Zfp518b |
A |
T |
5: 38,673,603 (GRCm38) |
V353E |
probably damaging |
Het |
| Zfp69 |
T |
C |
4: 120,934,347 (GRCm38) |
E39G |
probably benign |
Het |
| Zfp865 |
A |
G |
7: 5,029,091 (GRCm38) |
H25R |
possibly damaging |
Het |
|
| Other mutations in Igsf9b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00419:Igsf9b
|
APN |
9 |
27,319,655 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01013:Igsf9b
|
APN |
9 |
27,334,304 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01960:Igsf9b
|
APN |
9 |
27,328,606 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL02398:Igsf9b
|
APN |
9 |
27,333,130 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
IGL03007:Igsf9b
|
APN |
9 |
27,333,082 (GRCm38) |
missense |
probably damaging |
0.98 |
|
G1Funyon:Igsf9b
|
UTSW |
9 |
27,334,739 (GRCm38) |
utr 3 prime |
probably benign |
|
|
IGL03014:Igsf9b
|
UTSW |
9 |
27,322,636 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0127:Igsf9b
|
UTSW |
9 |
27,334,385 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R0376:Igsf9b
|
UTSW |
9 |
27,334,582 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0520:Igsf9b
|
UTSW |
9 |
27,323,250 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0534:Igsf9b
|
UTSW |
9 |
27,333,062 (GRCm38) |
splice site |
probably null |
|
|
R0718:Igsf9b
|
UTSW |
9 |
27,323,361 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0828:Igsf9b
|
UTSW |
9 |
27,319,605 (GRCm38) |
nonsense |
probably null |
|
|
R0879:Igsf9b
|
UTSW |
9 |
27,333,742 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0882:Igsf9b
|
UTSW |
9 |
27,319,316 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0987:Igsf9b
|
UTSW |
9 |
27,332,553 (GRCm38) |
splice site |
probably null |
|
|
R1162:Igsf9b
|
UTSW |
9 |
27,326,889 (GRCm38) |
missense |
probably benign |
|
|
R1758:Igsf9b
|
UTSW |
9 |
27,334,252 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R1760:Igsf9b
|
UTSW |
9 |
27,317,827 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R1819:Igsf9b
|
UTSW |
9 |
27,311,593 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1823:Igsf9b
|
UTSW |
9 |
27,331,732 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1982:Igsf9b
|
UTSW |
9 |
27,322,239 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R2150:Igsf9b
|
UTSW |
9 |
27,334,337 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2228:Igsf9b
|
UTSW |
9 |
27,333,496 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2229:Igsf9b
|
UTSW |
9 |
27,333,496 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2250:Igsf9b
|
UTSW |
9 |
27,309,478 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R2872:Igsf9b
|
UTSW |
9 |
27,322,223 (GRCm38) |
missense |
probably benign |
0.11 |
|
R2872:Igsf9b
|
UTSW |
9 |
27,322,223 (GRCm38) |
missense |
probably benign |
0.11 |
|
R3415:Igsf9b
|
UTSW |
9 |
27,309,478 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R3416:Igsf9b
|
UTSW |
9 |
27,309,478 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R3417:Igsf9b
|
UTSW |
9 |
27,309,478 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R3427:Igsf9b
|
UTSW |
9 |
27,334,577 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4356:Igsf9b
|
UTSW |
9 |
27,309,478 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4357:Igsf9b
|
UTSW |
9 |
27,309,478 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4358:Igsf9b
|
UTSW |
9 |
27,309,478 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4359:Igsf9b
|
UTSW |
9 |
27,309,478 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4379:Igsf9b
|
UTSW |
9 |
27,309,478 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4416:Igsf9b
|
UTSW |
9 |
27,322,917 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4445:Igsf9b
|
UTSW |
9 |
27,334,252 (GRCm38) |
missense |
probably benign |
0.13 |
|
R4446:Igsf9b
|
UTSW |
9 |
27,334,252 (GRCm38) |
missense |
probably benign |
0.13 |
|
R4787:Igsf9b
|
UTSW |
9 |
27,317,456 (GRCm38) |
missense |
probably benign |
0.26 |
|
R4887:Igsf9b
|
UTSW |
9 |
27,322,650 (GRCm38) |
missense |
probably benign |
0.45 |
|
R5085:Igsf9b
|
UTSW |
9 |
27,317,437 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5360:Igsf9b
|
UTSW |
9 |
27,311,672 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5417:Igsf9b
|
UTSW |
9 |
27,334,276 (GRCm38) |
small insertion |
probably benign |
|
|
R5686:Igsf9b
|
UTSW |
9 |
27,324,179 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5738:Igsf9b
|
UTSW |
9 |
27,328,530 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5869:Igsf9b
|
UTSW |
9 |
27,323,235 (GRCm38) |
missense |
probably benign |
0.44 |
|
R6304:Igsf9b
|
UTSW |
9 |
27,342,575 (GRCm38) |
missense |
probably benign |
0.19 |
|
R6359:Igsf9b
|
UTSW |
9 |
27,309,599 (GRCm38) |
missense |
probably benign |
0.25 |
|
R6367:Igsf9b
|
UTSW |
9 |
27,309,525 (GRCm38) |
nonsense |
probably null |
|
|
R6556:Igsf9b
|
UTSW |
9 |
27,329,555 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7058:Igsf9b
|
UTSW |
9 |
27,322,854 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7165:Igsf9b
|
UTSW |
9 |
27,334,240 (GRCm38) |
missense |
probably benign |
|
|
R7180:Igsf9b
|
UTSW |
9 |
27,322,668 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7212:Igsf9b
|
UTSW |
9 |
27,331,696 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7461:Igsf9b
|
UTSW |
9 |
27,334,122 (GRCm38) |
missense |
probably benign |
0.10 |
|
R7605:Igsf9b
|
UTSW |
9 |
27,323,312 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7609:Igsf9b
|
UTSW |
9 |
27,345,890 (GRCm38) |
missense |
probably benign |
|
|
R7613:Igsf9b
|
UTSW |
9 |
27,334,122 (GRCm38) |
missense |
probably benign |
0.10 |
|
R8072:Igsf9b
|
UTSW |
9 |
27,317,364 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R8163:Igsf9b
|
UTSW |
9 |
27,322,611 (GRCm38) |
splice site |
probably null |
|
|
R8301:Igsf9b
|
UTSW |
9 |
27,334,739 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R8546:Igsf9b
|
UTSW |
9 |
27,333,130 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R8553:Igsf9b
|
UTSW |
9 |
27,333,443 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R9438:Igsf9b
|
UTSW |
9 |
27,332,543 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9585:Igsf9b
|
UTSW |
9 |
27,322,236 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9720:Igsf9b
|
UTSW |
9 |
27,309,514 (GRCm38) |
missense |
probably damaging |
0.99 |
|
X0013:Igsf9b
|
UTSW |
9 |
27,331,725 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
X0025:Igsf9b
|
UTSW |
9 |
27,309,461 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0028:Igsf9b
|
UTSW |
9 |
27,334,372 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Igsf9b
|
UTSW |
9 |
27,317,353 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
Z1177:Igsf9b
|
UTSW |
9 |
27,334,292 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCATGAAGGTTGGCATAGCCAGAG -3'
(R):5'- CTGAGCCTGTCTGTTCCATCCAAG -3'
Sequencing Primer
(F):5'- CCTGAACCTGGGGATGCTTG -3'
(R):5'- GTACATGGCAAATCCTTACTGGG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation